FlyBase Allele Report: Dmel\Brca2[56E]

General Information

Symbol

Dmel\Brca2^56E

Species

D. melanogaster

Name

FlyBase ID

FBal0221547

Feature type

allele

Associated gene

Dmel\Brca2

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Klovstad et al., 2008)

Progenitor genotype

P{SUPor-P}Brca2^KG03961

(Klovstad et al., 2008)

Caused by aberration

Df(2R)Brca2^56E

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a deletion that removes the majority of the coding sequence of Brca2 and most of the 5' UTR of CG4612.

(Klovstad et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:24,525,510..24,529,030 [+]

Comment:

A deletion (resulting from imprecise excision) that removes the majority of the coding sequence of Brca2 and most of the 5' UTR of CG4612.

(Klovstad et al., 2008)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal DNA repair

(Klovstad et al., 2008)

abnormal DNA repair (with Brca2^KO)

(Klovstad et al., 2008)

chemical sensitive (with Brca2^KO)

(Klovstad et al., 2008)

chemical sensitive | recessive

(Klovstad et al., 2008)

female sterile (with Brca2^KO)

(Klovstad et al., 2008)

female sterile | recessive

(Klovstad et al., 2008)

radiation sensitive (with Brca2^KO)

(Klovstad et al., 2008)

radiation sensitive | recessive

(Klovstad et al., 2008)

viable

(Klovstad et al., 2008)

viable (with Brca2^KO)

(Merigliano et al., 2017, Klovstad et al., 2008)

Phenotype Manifest In

chromosome | third instar larval stage (with Brca2^KO)

(Merigliano et al., 2019)

dorsal appendage (with Brca2^KO)

(Klovstad et al., 2008)

dorsal appendage | maternal effect (with Brca2^KO)

(Nagel et al., 2012)

karyosome (with Brca2^KO)

(Klovstad et al., 2008)

larval brain | third instar larval stage (with Brca2^KO)

(Merigliano et al., 2019)

neuroblast | third instar larval stage (with Brca2^KO)

(Merigliano et al., 2019)

Detailed Description

Statement

Reference

Brca2^56E/Brca2^KO third instar larval brain neuroblasts show a small increase in the frequency of chromosomal aberrations, as compared to controls.

(Merigliano et al., 2019)

Eggs derived from Brca2^56E/Brca2^KO females show mild eggshell patterning defects.

(Nagel et al., 2012)

Homozygous and Brca2^KO/Brca2^56E larvae are highly sensitive to treatment with X-rays or with methyl methanesulfonate.

Brca2^KO/Brca2^56E mutants show significant decreases in HR-h (homologous recombination using the homologous chromosome) repair in a "Repair Reporter 3" assay when the HR-h pathway is available. Short tract HR-h is decreased 64-fold from wild-type values and long-tract HR-h in decreased 9-fold. There is a significant increase in single-strand annealing and in flanking deletions in the mutant flies compared to controls under these conditions.

In a "Repair Reporter 3" assay when the HR-h pathway is unavailable, Brca2^56E mutants show significant changes in single-strand annealing (SSA) and non-homologous end joining (NHEJ) compared to controls; the use of SSA is increased to 111% of wild-type levels and NHEJ is decreased to 74% of wild-type levels.

Eggs laid by Brca2^KO/Brca2^56E females have a highly penetrant karyosome defect. Some of these eggs are weakly ventralised, having two dorsal appendages that are fused at the base.

(Klovstad et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Brca2^KO/Brca2^56E is an enhancer of increased mortality during development phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

Other

Statement

Reference

Brca2^KO/Brca2^56E, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Brca2^56E has larval brain | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

Brca2^56E has neuroblast | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

Brca2^56E has chromosome | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

Suppressed by

Statement

Reference

Brca2^KO/Brca2^56E has karyosome phenotype, suppressible by mei-P22^unspecified/mei-P22^unspecified

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has dorsal appendage phenotype, suppressible by mei-P22^unspecified/mei-P22^unspecified

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has karyosome phenotype, suppressible by lok^p6/lok^p6

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has dorsal appendage phenotype, suppressible by lok^p6/lok^p6

(Klovstad et al., 2008)

NOT suppressed by

Statement

Reference

Brca2^KO/Brca2^56E has karyosome phenotype, non-suppressible by mei-41^D3

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has dorsal appendage phenotype, non-suppressible by mei-41^D3

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has karyosome phenotype, non-suppressible by mei-41^29D

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E has dorsal appendage phenotype, non-suppressible by mei-41^29D

(Klovstad et al., 2008)

Enhancer of

Statement

Reference

Brca2^KO/Brca2^56E is an enhancer of larval brain | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

Brca2^KO/Brca2^56E is an enhancer of neuroblast | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

Brca2^KO/Brca2^56E is an enhancer of chromosome | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

Suppressor of

Statement

Reference

Brca2^KO/Brca2^56E is a suppressor of dorsal appendage phenotype of spn-D¹

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E is a suppressor | partially of dorsal appendage phenotype of spn-A^unspecified

(Klovstad et al., 2008)

Brca2^KO/Brca2^56E is a suppressor of dorsal appendage phenotype of okr^unspecified

(Klovstad et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Eggs derived from Brca2^56E/Brca2^KO ; CycG^HR7/CycG^HR7 double mutant females have a mild eggshell patterning defect, which is not altered compared to the defect seen in eggs derived from Brca2^56E/Brca2^KO single mutant females.

(Nagel et al., 2012)

The eggshell patterning and karyosome formation defects of Brca2^KO/Brca2^56E females are rescued by mei-P22^unspecified/mei-P22^unspecified.

The eggshell patterning and karyosome formation defects of Brca2^KO/Brca2^56E females are rescued by lok^p6/lok^p6.

The addition of mei-41^D3 or mei-41^29D results in little or no suppression of the eggshell patterning and karyosome formation defects of Brca2^KO/Brca2^56E females.

The eggshell patterning defects of eggs laid by spn-D¹ or okr^unspecified females are strongly suppressed by Brca2^KO/Brca2^56E.

The eggshell patterning defects of eggs laid by spn-A^unspecified females are partially suppressed by Brca2^KO/Brca2^56E.

Brca2^KO/Brca2^56E and homozygous mutant larvae demonstrate efficient G2 arrest and induction of apoptosis after exposure to 4000Rad irradiation, as occurs in wild-type larvae. They also show a normal reduction in BrdU incorporation after a 4000Rad irradiation exposure. Cell cycle arrest after a 500Rad irradiation exposure is also normal in the mutant larvae.

(Klovstad et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Brca2^KO/Brca2^56E is rescued by Brca2^+t5.8

(Klovstad et al., 2008)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Brca2^56E

brca2^56E

(Merigliano et al., 2019, Merigliano et al., 2017, Nagel et al., 2012, Klovstad et al., 2008)

brca^56E

(Merigliano et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (4)

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